In recent years, analysis of variation within the human genome has become a topic of interest in genomics. Single-Nucleotide Polymorphisms (SNPs) were the first type of sequence variation to be widely studied, and many such polymorphisms have been linked to human diseases. Interest in Copy Number Variants (CNVs) has grown in the past couple of years, with the realization that this type of genomic variation is much more commonplace than initially assumed. Chromosomal rearrangements are a third type of genomic variation, which have been much less studied than the other two.
This disclosure describes a method for detecting a chromosomal inversion or translocation and a kit for practicing the same.